Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Oculoauricular Syndrome | HMX1 | 612109 | autosomal recessive | |
| Oculocerebral Syndrome with Hypopigmentation | del(3)(q27.1-1q29) locus | Cross syndrome, Kramer syndrome, OCHS | 257800 | autosomal recessive? |
| Oculodentodigital Dysplasia | GJA1 | ODDD, ODOD, oculodentoosseous dysplasia | 257850, 164200 | autosomal recessive, autosomal dominant |
| Oculomotor Apraxia | ? | COMA, congenital saccade initiation failure, Cogan-type congenital oculomotor apraxia | 257550 | autosomal dominant?, autosomal recessive? |
| Oculootofacial Dysplasia | TXNL4A | Burn-McKeown syndrome, BMKS, OOFD | 608572 | autosomal recessive |
| Oculopharyngeal Muscular Dystrophy | PABPN1 | oculoskeletal myopathy, OPMD | 164300 | autosomal dominant |
| Oculopharyngodistal Myopathy | ? | OPDM | 164310 | autosomal dominant |
| Oguchi Disease, Type 1 | SAG | congenital stationary night blindness Oguchi type 1 | 258100 | autosomal recessive |
| Oguchi Disease, Type 2 | GRK1 | congenital stationary night blindness Oguchi type 2 | 180381 | autosomal recessive |
| Optic Atrophy 1 | OPA1 | juvenile optic atrophy, Kjer-type optic atrophy, OAK | 165500, 125250 | autosomal dominant |
| Optic Atrophy 10 | RTN4IP1 | OPA10 | 616732 | autosomal recessive |
| Optic Atrophy 11 | YME1L1 | OPA11 | 617302 | autosomal recessive |
| Optic Atrophy 2, X-Linked | OPA2 | X-linked optic atrophy | 311050 | X-linked recessive |
| Optic Atrophy 3 and Cataracts | OPA3 | optic atrophy and cataract, OPA3 autosomal dominant | 165300, 258501 | autosomal dominant |
| Optic Atrophy 4 | OPA4 | OPA4, optic atrophy-4 | 605293 | autosomal dominant |
| Optic Atrophy 5 | DNM1L | OPA5 | 610708 | autosomal dominant |
| Optic Atrophy 6 | OPA6 | congenital or early infantile optic atrophy, OPA6 | 258500 | autosomal recessive |
| Optic Atrophy 7 | TMEM126A | OPA7 | 612989 | autosomal recessive |
| Optic Atrophy 9 | ACO2 | OPA9 | 616289 | autosomal recessive |
| Optic Atrophy with Intellectual Disability | NR2F1 | Bosch-Boonstra-Schaaf optic atrophy syndrome | 615722 | autosomal dominant |
| Optic Atrophy, Areflexia, Ataxia, Hearing Loss | ATP1A3 | CAPOS | 601338 | autosomal dominant |
| Optic Atrophy, Ophthalmoplegia, Myopathy, and Neuropathy | OPA1 | dominant optic atrophy plus syndrome, DOA+ | 125250 | autosomal dominant |
| Optic Nerve Edema, Splenomegaly, Cytopenias | ? | splenomegaly cytopenias and vision loss | autosomal dominant? | |
| Optic Nerve Hypoplasia, Bilateral | PAX6 | optic nerve aplasia | 165550 | autosomal dominant |
| Organoid Nevus Syndrome | ? | SFM syndrome, nevus sebaceous of Jadassohn, organoid nevus phakomatosis, linear nevus sebaceous of Jadassohn, Schimmelpenning-Feuerstein-Mims syndrome | 163200 | ? |
| Orofaciodigital Syndrome IX | ? | OFD9, Gurrieri syndrome, OFDS-IX, orofaciodigital syndrome with retinal abnormalities | 258865 | autosomal recessive? |
| Orofaciodigital Syndrome, Type VI | TMEM216, C5orf42 | Varadi syndrome, OFDVI | 277170 | autosomal recessive? |
| Osteogenesis Imperfecta | COL1A1, COL1A2 | brittle bone syndrome, OI, osteogenesis imperfecta | 166200, 166210, 259420, 166220 | autosomal dominant |
| Osteogenesis Imperfecta, Type VII | CRTAP | OI7, OI type VII, lethal osteogenesis imperfecta | 610682112240 | autosomal recessive |
| Osteoporosis-Pseudoglioma Syndrome | LRP5 | OPPG, OPS, ocular osteogenesis imperfecta | 259770 | autosomal recessive |